Association of SNP rs.2414096 CYP19 gene with polycystic ovarian syndrome in Iranian women|
Mehdizadeh, Anahita; Kalantar, Seyed Mehdi; Sheikhha, Mohammad Hassan; Aali, Bibi Shahnaz & Ghanei, Azam
Background: Genetic factors are believed to play an important role in the etiology
of polycystic ovarian syndrome (PCOS) which is the most common
endocrinological disorder of women in their reproductive age. Androgen metabolism
is impaired in PCOS and, thus, CYP19 gene which is involved in this pathway can
be a candidate gene. Previous studies have shown a relationship between single
nucleotide polymorphism (SNP) of CYP19 in hyperandrogenism and PCOS in some
Objective: This study was designed to elucidate the role of CYP19 gene in PCOS in
Materials and Methods: In this case-control study, 70 PCOS women and 70 non-PCOS women as normal control were selected. Following the informed consent, 5
ml blood was taken from individuals and subsequently, genomic DNA was extracted
by salting out method. Furthermore, a set of polymerase chain reaction restriction
fragment length polymorphism (PCR-RFLP) was carried out using specific primers
for SNP rs.2414096 followed by enzyme digestion, with HSP92II.
Results: Genotype frequencies of SNP rs. 2414096 in PCOS women were as
follows: AA (14.4%), AG (44.3%), and GG (41.4%) while in normal group,
genotypes were 24.3%, 52.8%, and 22.9%, respectively. Allele frequencies in PCOS
group were 49.3% for A and 50.7% for G, whereas normal group had a different
percentage of A (36.4%) and G (63.6%). The calculations for both genotypic and
allelic frequencies showed statistical significance difference.
Conclusion: Variants of SNP rs. 2414096 in CYP19 could play a role in the
development of PCOS in Iranian women.
Polycystic ovarian syndrome; CYP19; Single nucleotide polymorphism.